Recently, at least three articles have reviewed the ensemble of bioinformatics tools developed in the past few years to understand the alterations that plague the genome and [...]
It is now well established that cancer is a collection of mostly genetic diseases. They progress through the accumulation of alterations, such as point mutations in genes [...]
Yesterday night, our IntOGen-mutations paper went online in Nature Methods. A couple of years of hard work of our team lies now condensed into a couple of [...]
Last Monday, April 29th, Alba defended her PhD thesis at the PRBB. It was the highest point of a story that started some five years ago, when [...]
Projects that sequence the genomes of a cohort of tumor samples are faced with the challenge of deciding which somatic mutations are relevant to tumor development (drivers). [...]
Several weeks ago we realized we were having problems retrieving the functional impact scores from the MutationAssessor webservice into our condel web server. We immediately corrected the [...]
I have recently seen several presentations by groups that systematically explore alterations in cancer genomes that deliver the same message. One of the main challenges [...]
We have found two major drawbacks to computational approaches that assess the outcome of non-synonymous SNVs. The first is that there are now too many of them, [...]
Yes, the Ensembl-variation 62 is out, and Condel has been included in its API. From this version on, the effects of all non-synonymous Single Nucleotide Variants (SNVs) [...]
Our article on a Consensus deleteriousness score of missense Single Nucleotide Variants was published yesterday online and will be included in the April issue of the American [...]